rs1057516273

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1057516273(A;C)

Make rs1057516273(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

119514979

Gene

HSD17B4

is a	snp
is	mentioned by
dbSNP	rs1057516273
dbSNP (classic)	rs1057516273
ClinGen	rs1057516273
ebi	rs1057516273
HLI	rs1057516273
Exac	rs1057516273
Gnomad	rs1057516273
Varsome	rs1057516273
LitVar	rs1057516273
Map	rs1057516273
PheGenI	rs1057516273
Biobank	rs1057516273
1000 genomes	rs1057516273
hgdp	rs1057516273
ensembl	rs1057516273
geneview	rs1057516273
scholar	rs1057516273
google	rs1057516273
pharmgkb	rs1057516273
gwascentral	rs1057516273
openSNP	rs1057516273
23andMe	rs1057516273
SNPshot	rs1057516273
SNPdbe	rs1057516273
MSV3d	rs1057516273
GWAS Ctlg	rs1057516273

Max Magnitude

0

ClinVar
Risk	rs1057516273(C;C)
Alt	rs1057516273(C;C)
Reference	Rs1057516273(A;A)
Significance	Probable-Pathogenic
Disease	Bifunctional peroxisomal enzyme deficiency
Variation	info
Gene	HSD17B4
CLNDBN	Bifunctional peroxisomal enzyme deficiency
Reversed	0
HGVS	NC_000005.9:g.118850674A>C
CLNSRC
CLNACC	RCV000410725.1,